Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.
case_report · Level V
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- Record sourced from PubMed, PMID 16651346.
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Abstract
Here we report the first infantile case of restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. The patient presented with an apparent life-threatening event. She developed malignant arrhythmias and hemodynamic instability, requiring initial rescue support with extracorporeal membrane oxygenation, and subsequently underwent insertion of a biventricular assist device (VAD). She successfully received an orthotopic heart transplant 172 days after VAD implantation.
Medical subject headings
- Cardiomyopathy, Restrictive
- Mutation
- Troponin T